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2024-04-20 12:04:43, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_020384 2998 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens claudin 2 (CLDN2), transcript variant 1, mRNA. ACCESSION NM_020384 VERSION NM_020384.3 GI:283806626 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2998) AUTHORS Den Beste,K.A., Hoddeson,E.K., Parkos,C.A., Nusrat,A. and Wise,S.K. TITLE Epithelial permeability alterations in an in vitro air-liquid interface model of allergic fungal rhinosinusitis JOURNAL Int Forum Allergy Rhinol 3 (1), 19-25 (2013) PUBMED 22927233 REMARK GeneRIF: Sinonasal epithelium in allergic fungal rhinosinusitis displays increased epithelial permeability and an altered expression of claudin-2 REFERENCE 2 (bases 1 to 2998) AUTHORS Whitcomb DC, LaRusch J, Krasinskas AM, Klei L, Smith JP, Brand RE, Neoptolemos JP, Lerch MM, Tector M, Sandhu BS, Guda NM, Orlichenko L, Alkaade S, Amann ST, Anderson MA, Baillie J, Banks PA, Conwell D, Cote GA, Cotton PB, DiSario J, Farrer LA, Forsmark CE, Johnstone M, Gardner TB, Gelrud A, Greenhalf W, Haines JL, Hartman DJ, Hawes RA, Lawrence C, Lewis M, Mayerle J, Mayeux R, Melhem NM, Money ME, Muniraj T, Papachristou GI, Pericak-Vance MA, Romagnuolo J, Schellenberg GD, Sherman S, Simon P, Singh VP, Slivka A, Stolz D, Sutton R, Weiss FU, Wilcox CM, Zarnescu NO, Wisniewski SR, O'Connell MR, Kienholz ML, Roeder K, Barmada MM, Yadav D and Devlin B. CONSRTM Alzheimer's Disease Genetics Consortium TITLE Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis JOURNAL Nat. Genet. 44 (12), 1349-1354 (2012) PUBMED 23143602 REMARK GeneRIF: Two associations with alcoholic pancreatitis at genome-wide significance were identified and replicated at PRSS1-PRSS2 and X-linked CLDN2 through a two-stage genome-wide study. REFERENCE 3 (bases 1 to 2998) AUTHORS Kim,T.I., Poulin,E.J., Blask,E., Bukhalid,R., Whitehead,R.H., Franklin,J.L. and Coffey,R.J. TITLE Myofibroblast keratinocyte growth factor reduces tight junctional integrity and increases claudin-2 levels in polarized Caco-2 cells JOURNAL Growth Factors 30 (5), 320-332 (2012) PUBMED 22946653 REMARK GeneRIF: results implicate pericryptal myofibroblast-derived paracrine KGF and largely autocrine amphiregulin in the upregulation of claudin-2 in Caco-2 epithelial monolayers and consequent disruption of tight junction integrity REFERENCE 4 (bases 1 to 2998) AUTHORS Van Itallie,C.M., Mitic,L.L. and Anderson,J.M. TITLE SUMOylation of claudin-2 JOURNAL Ann. N. Y. Acad. Sci. 1258, 60-64 (2012) PUBMED 22731716 REMARK GeneRIF: Stable expression of inducible GFP-SUMO-1 in MDCK cells resulted in decreased levels of claudin-2 protein by immunoblot and decreased claudin-2 membrane expression REFERENCE 5 (bases 1 to 2998) AUTHORS Ikari,A., Sato,T., Watanabe,R., Yamazaki,Y. and Sugatani,J. TITLE Increase in claudin-2 expression by an EGFR/MEK/ERK/c-Fos pathway in lung adenocarcinoma A549 cells JOURNAL Biochim. Biophys. Acta 1823 (6), 1110-1118 (2012) PUBMED 22546605 REMARK GeneRIF: These results suggest that EGF is secreted from A549 cells by MMP and increases claudin-2 expression mediated via the activation of an EGFR/MEK/ERK pathway. REFERENCE 6 (bases 1 to 2998) AUTHORS Heiskala,M., Peterson,P.A. and Yang,Y. TITLE The roles of claudin superfamily proteins in paracellular transport JOURNAL Traffic 2 (2), 93-98 (2001) PUBMED 11247307 REMARK Review article REFERENCE 7 (bases 1 to 2998) AUTHORS Kniesel,U. and Wolburg,H. TITLE Tight junctions of the blood-brain barrier JOURNAL Cell. Mol. Neurobiol. 20 (1), 57-76 (2000) PUBMED 10690502 REMARK Review article REFERENCE 8 (bases 1 to 2998) AUTHORS Itoh,M., Furuse,M., Morita,K., Kubota,K., Saitou,M. and Tsukita,S. TITLE Direct binding of three tight junction-associated MAGUKs, ZO-1, ZO-2, and ZO-3, with the COOH termini of claudins JOURNAL J. Cell Biol. 147 (6), 1351-1363 (1999) PUBMED 10601346 REFERENCE 9 (bases 1 to 2998) AUTHORS Morita,K., Furuse,M., Fujimoto,K. and Tsukita,S. TITLE Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands JOURNAL Proc. Natl. Acad. Sci. U.S.A. 96 (2), 511-516 (1999) PUBMED 9892664 REFERENCE 10 (bases 1 to 2998) AUTHORS Furuse,M., Fujita,K., Hiiragi,T., Fujimoto,K. and Tsukita,S. TITLE Claudin-1 and -2: novel integral membrane proteins localizing at tight junctions with no sequence similarity to occludin JOURNAL J. Cell Biol. 141 (7), 1539-1550 (1998) PUBMED 9647647 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA743944.1, AK075405.1 and AA973123.1. This sequence is a reference standard in the RefSeqGene project. On Jan 13, 2010 this sequence version replaced gi:38455423. Summary: This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physiologic properties of tight junctions. This protein is expressed in the intestine. Alternatively spliced transcript variants with different 5' untranslated region have been found for this gene.[provided by RefSeq, Jan 2010]. Transcript Variant: This variant represents the predominant transcript. Variants 1-3 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK075405.1, BC071747.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-567 DA743944.1 13-579 568-2550 AK075405.1 540-2522 2551-2998 AA973123.1 1-448 c FEATURES Location/Qualifiers source 1..2998 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /map="Xq22.3-q23" gene 1..2998 /gene="CLDN2" /note="claudin 2" /db_xref="GeneID:9075" /db_xref="HGNC:2041" /db_xref="HPRD:06471" /db_xref="MIM:300520" exon 1..176 /gene="CLDN2" /inference="alignment:Splign:1.39.8" variation 22 /gene="CLDN2" /replace="a" /replace="g" /db_xref="dbSNP:6622120" variation 25 /gene="CLDN2" /replace="c" /replace="t" /db_xref="dbSNP:113323818" variation 62 /gene="CLDN2" /replace="a" /replace="g" /db_xref="dbSNP:4535876" variation 89 /gene="CLDN2" /replace="a" /replace="c" /db_xref="dbSNP:181237145" variation 138 /gene="CLDN2" /replace="a" /replace="g" /db_xref="dbSNP:368168388" exon 177..2987 /gene="CLDN2" /inference="alignment:Splign:1.39.8" variation 222 /gene="CLDN2" /replace="a" /replace="g" /db_xref="dbSNP:113920114" variation 255 /gene="CLDN2" /replace="a" /replace="g" /db_xref="dbSNP:183323379" misc_feature 262..264 /gene="CLDN2" /note="upstream in-frame stop codon" CDS 355..1047 /gene="CLDN2" /note="SP82" /codon_start=1 /product="claudin-2" /protein_id="NP_065117.1" /db_xref="GI:9966781" /db_xref="CCDS:CCDS14524.1" /db_xref="GeneID:9075" /db_xref="HGNC:2041" /db_xref="HPRD:06471" /db_xref="MIM:300520" /translation="
MASLGLQLVGYILGLLGLLGTLVAMLLPSWKTSSYVGASIVTAVGFSKGLWMECATHSTGITQCDIYSTLLGLPADIQAAQAMMVTSSAISSLACIISVVGMRCTVFCQESRAKDRVAVAGGVFFILGGLLGFIPVAWNLHGILRDFYSPLVPDSMKFEIGEALYLGIISSLFSLIAGIILCFSCSSQRNRSNYYDAYQAQPLATRSSPRPGQPPKVKSEFNSYSLTGYV
"
misc_feature 376..438
/gene="CLDN2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P57739.1);
transmembrane region"
misc_feature 442..897
/gene="CLDN2"
/note="PMP-22/EMP/MP20/Claudin family; Region:
PMP22_Claudin; cl15797"
/db_xref="CDD:210197"
misc_feature 598..660
/gene="CLDN2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P57739.1);
transmembrane region"
misc_feature 703..765
/gene="CLDN2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P57739.1);
transmembrane region"
misc_feature 841..903
/gene="CLDN2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P57739.1);
transmembrane region"
misc_feature 1039..1044
/gene="CLDN2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P57739.1);
Region: Interactions with TJP1, TJP2 and TJP3 (By
similarity)"
variation 410
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:151003816"
variation 416
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:375239457"
variation 441
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141147283"
STS 535..763
/gene="CLDN2"
/standard_name="CLDN2"
/db_xref="UniSTS:498200"
variation 555
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:144975285"
variation 576
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369821153"
variation 577
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138837133"
variation 609
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199729528"
variation 782
/gene="CLDN2"
/replace="a"
/replace="t"
/db_xref="dbSNP:373340705"
variation 788
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200980922"
variation 816
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140513089"
variation 827
/gene="CLDN2"
/replace="a"
/replace="t"
/db_xref="dbSNP:150418351"
variation 914
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:377500294"
variation 926
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138227214"
variation 940
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371377414"
variation 942
/gene="CLDN2"
/replace="g"
/replace="t"
/db_xref="dbSNP:200850588"
variation 969
/gene="CLDN2"
/replace="a"
/replace="c"
/db_xref="dbSNP:149607136"
variation 1000
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144353049"
STS 1006..1768
/gene="CLDN2"
/standard_name="CLDN2_2269"
/db_xref="UniSTS:280505"
variation 1055
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199803730"
variation 1204
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374633456"
variation 1210
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:191880523"
variation 1272
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376522492"
variation 1308
/gene="CLDN2"
/replace="a"
/replace="c"
/db_xref="dbSNP:200371519"
variation 1349
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:16987204"
variation 1415
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:183625207"
variation 1707
/gene="CLDN2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1128218"
variation 1778
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:41309528"
variation 1826..1827
/gene="CLDN2"
/replace=""
/replace="g"
/db_xref="dbSNP:200233084"
variation 1922
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:7883582"
variation 2061
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:187325704"
variation 2073
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:73533029"
variation 2097
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:192635116"
variation 2212
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:184610738"
variation 2237
/gene="CLDN2"
/replace="a"
/replace="c"
/db_xref="dbSNP:147829672"
variation 2262
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:141297568"
variation 2355
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145166443"
variation 2507
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373807733"
variation 2517
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:186720703"
variation 2586
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201099546"
variation 2670
/gene="CLDN2"
/replace="a"
/replace="g"
/db_xref="dbSNP:192199825"
variation 2805
/gene="CLDN2"
/replace="a"
/replace="c"
/db_xref="dbSNP:147588227"
variation 2833
/gene="CLDN2"
/replace="c"
/replace="t"
/db_xref="dbSNP:367974655"
polyA_signal 2967..2972
/gene="CLDN2"
polyA_site 2987
/gene="CLDN2"
ORIGIN
aagtctctgacccacggctcagatttgcagatggattttgcaaagctgtggttaacgattagaaatcctttatcacctcagcccgtggccccttgtacttcgctcccctccctcaggatccctttctccctctccaggggcatctccccctccaaggctctgcaaagaactgccctgtcttctagatgccttcttgaggctgcttgtggccacccacagacacttgtaaggaggagagaagtcagcctggcagagagactctgaaatgagggattagaggtgttcaaggagcaagagcttcagcctgaagacaagggagcagtccctgaagacgcttctactgagaggtctgccatggcctctcttggcctccaacttgtgggctacatcctaggccttctggggcttttgggcacactggttgccatgctgctccccagctggaaaacaagttcttatgtcggtgccagcattgtgacagcagttggcttctccaagggcctctggatggaatgtgccacacacagcacaggcatcacccagtgtgacatctatagcacccttctgggcctgcccgctgacatccaggctgcccaggccatgatggtgacatccagtgcaatctcctccctggcctgcattatctctgtggtgggcatgagatgcacagtcttctgccaggaatcccgagccaaagacagagtggcggtagcaggtggagtctttttcatccttggaggcctcctgggattcattcctgttgcctggaatcttcatgggatcctacgggacttctactcaccactggtgcctgacagcatgaaatttgagattggagaggctctttacttgggcattatttcttccctgttctccctgatagctggaatcatcctctgcttttcctgctcatcccagagaaatcgctccaactactacgatgcctaccaagcccaacctcttgccacaaggagctctccaaggcctggtcaacctcccaaagtcaagagtgagttcaattcctacagcctgacagggtatgtgtgaagaaccaggggccagagctggggggtggctgggtctgtgaaaaacagtggacagcaccccgagggccacaggtgagggacactaccactggatcgtgtcagaaggtgctgctgaggatagactgactttggccattggattgagcaaaggcagaaatgggggctagtgtaacagcatgcaggttgaattgccaaggatgctcgccatgccagcctttctgttttcctcaccttgctgctcccctgccctaagtccccaaccctcaacttgaaaccccattcccttaagccaggactcagaggatccctttgccctctggtttacctgggactccatccccaaacccactaatcacatcccactgactgaccctctgtgatcaaagaccctctctctggctgaggttggctcttagctcattgctggggatgggaaggagaagcagtggcttttgtgggcattgctctaacctacttctcaagcttccctccaaagaaactgattggccctggaacctccatcccactcttgttatgactccacagtgtccagactaatttgtgcatgaactgaaataaaaccatcctacggtatccagggaacagaaagcaggatgcaggatgggaggacaggaaggcagcctgggacatttaaaaaaataaaaatgaaaaaaaaacccagaacccatttctcagggcactttccagaattctctcatatttgtgggctgggatcaagcctgcagcttgaggaaagcacaaggaaaggaaagaagatctggtggaaagctcaggtggcagcggactctgactccactgaggaactgcctcagaagctgcgatcacaactttggctgaagcccctgcctcactctagggcacctgacctggcctcttgcctaaaccacaaggctaagggctatagacaatggtttccttaggaacagtaaaccagtttttctagggatggcccttggctgggggatgacagtgtgggagctgtggggtactgaggaagacaccattccttgacggtgtctaagaagccaggtggatgtgtgtggtggctccagtgggtgtttctactctgccagtgagaggcagccccctagaaactcttcaggcgtaatggaaaatcagctcaaatgagatcaggcccccccagggtccacccacagagcactacagagcctctgaaagaccatagcaccaagcgagccccttcagattcccccactgtccatcggaagatgctccagagtggctagagggcatctaagggctccagcatggcatatccatgcccacggtgctgtgtccatgatctgagtgatagctgcactgctgcctgggattgcagctgaggtgggagtggagaatggttcccaggaagacagttccacctctaaggtccgaaaatgttccctttaccctggagtgggagtgaggggtcatacaccaaaggtattttccctcaccagtctaggcatgactggcttctgaaaaattccagcacacctcctcgaacctcattgtcagcagagagggcccatctgttgtctgtaacatgcctttcacatgtccaccttcttgccatgttccagctgctctcccaacctggaaggccgtctccccttagccaagtcctcctcaggcttggagaacttcctcagcgtcacctccttcattgagccttctctgatcactccatccctctcctacccctccctcccccaaccctcaatgtataaattgcttcttgatgcttagcattcacaatttttgattgatcgttatttgtgtgtgtgtgtccgatctcacaagtatattgtaaacccttcggtgggtgggggccatatcctagacctctctgtatcccccagactatctgtaacagtgccaggcacacagtaggtgatcaataaacacttgttgattgagaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:9075 -> Molecular function: GO:0005198 [structural molecule activity] evidence: IEA
GeneID:9075 -> Molecular function: GO:0042802 [identical protein binding] evidence: ISS
GeneID:9075 -> Biological process: GO:0016338 [calcium-independent cell-cell adhesion] evidence: ISS
GeneID:9075 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
GeneID:9075 -> Cellular component: GO:0005923 [tight junction] evidence: ISS
GeneID:9075 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
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